A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17107805



Internal ID21440912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10200480..10200541hg38UCSC Ensembl
chr2:10340606..10340667hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5575955
Supporting Variants
SamplesHG00732
Known GenesC2orf48
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17107805
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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